Ctsl^fs
Spontaneous Allele Detail

Summary

• Symbol: Ctsl^fs
• Name: cathepsin L; furless
• MGI ID: MGI:1856878
• Gene: Ctsl Location: Chr13:64509704-64518586 bp, - strand Genetic Position: Chr13, 33.26 cM
• Alliance: Ctsl^fs page

Mutation origin

• Strain of Origin: unpedigreed stock

Mutation description

• Allele Type: Spontaneous
• Mutation: Single point mutation
• Mutation details: The mutation in the furless mutant was identified as a G-to-A transition (C-to-T on forward strand) in exon 5, resulting in an glycine to arginine substitution at position 149 of the protein (p.G149R). (J:70118)
• Inheritance: Recessive

Expression

In Structures Affected by this Mutation:

5 anatomical structure(s)

Find Mice (IMSR)

• Mouse strains and cell lines available from the International Mouse Strain Resource (IMSR)
• Carrying this Mutation: Mouse Strains: 1 strain available Cell Lines: 0 lines available
• Carrying any Ctsl Mutation: 32 strains or lines available

Notes

The phenotype of homozygous furless mice was notably similar to the phenotype observed in Ctsl^tm1Cptr homozygous mice. An allele test between the two mutant strains of mice was performed, where they failed to complement, indicating the two mutants are allelic.

References

• Original: J:15332 Green EL, The genetics of a new hair deficiency, furless, in the house mouse. J Hered. 1954;45(3):115-18
• All: 8 reference(s)